A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18001301



Internal ID20568341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:51069350..51069756hg38UCSC Ensembl
chr12:51463133..51463539hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg38407
hg19407
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6475244
Supporting Variants
Samples
Known GenesCSRNP2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18001301
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.02473


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer